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Page 1
Interstitial microdeletion of the 1p34.3p34.2 region.
Mol Genet Genomic Med. 2018 May 3;6(4):673-7. doi: 10.1002/mgg3.409. Online ahead of print.
Mol Genet Genomic Med. 2018.
PMID: 29726122
Free PMC article.
Expanding the phenotypic spectrum of MBOAT7-related intellectual disability.
Jacher JE, Roy N, Ghaziuddin M, Innis JW.
Jacher JE, et al.
Am J Med Genet B Neuropsychiatr Genet. 2019 Oct;180(7):483-487. doi: 10.1002/ajmg.b.32749. Epub 2019 Jul 8.
Am J Med Genet B Neuropsychiatr Genet. 2019.
PMID: 31282596
Free article.
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Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Kang SK, Vanoye CG, Misra SN, Echevarria DM, Calhoun JD, O'Connor JB, Fabre KL, McKnight D, Demmer L, Goldenberg P, Grote LE, Thiffault I, Saunders C, Strauss KA, Torkamani A, van der Smagt J, van Gassen K, Carson RP, Diaz J, Leon E, Jacher JE, Hannibal MC, Litwin J, Friedman NR, Schreiber A, Lynch B, Poduri A, Marsh ED, Goldberg EM, Millichap JJ, George AL Jr, Kearney JA.
Kang SK, et al. Among authors: jacher je.
Ann Neurol. 2019 Dec;86(6):899-912. doi: 10.1002/ana.25607. Epub 2019 Oct 24.
Ann Neurol. 2019.
PMID: 31600826
Free PMC article.
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Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM.
Ziats MN, et al. Among authors: jacher je.
Pediatr Res. 2020 Mar;87(4):735-739. doi: 10.1038/s41390-019-0611-5. Epub 2019 Oct 16.
Pediatr Res. 2020.
PMID: 31618753
Free PMC article.
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Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Wooderchak-Donahue WL, Akay G, Whitehead K, Briggs E, Stevenson DA, O'Fallon B, Velinder M, Farrell A, Shen W, Bedoukian E, Skrabann CM, Antaya RJ, Henderson K, Pollak J, Treat J, Day R, Jacher JE, Hannibal M, Bontempo K, Marth G, Bayrak-Toydemir P, McDonald J.
Wooderchak-Donahue WL, et al. Among authors: jacher je.
Genet Med. 2019 Sep;21(9):2007-2014. doi: 10.1038/s41436-019-0443-z. Epub 2019 Feb 14.
Genet Med. 2019.
PMID: 30760892
Free article.
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Pulmonary arterial hypertension: Specialists' knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA.
Jacher JE, Martin LJ, Chung WK, Loyd JE, Nichols WC.
Jacher JE, et al.
Pulm Circ. 2017 Apr-Jun;7(2):372-383. doi: 10.1177/2045893217700156. Epub 2017 Mar 27.
Pulm Circ. 2017.
PMID: 28597770
Free PMC article.
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